Cytogenetic and single nucleotide polymorphism array findings in soft tissue tumors in infants

TY - JOUR

T1 - Cytogenetic and single nucleotide polymorphism array findings in soft tissue tumors in infants

AU - Walther, Charles

AU - Nilsson, Jenny

AU - von Steyern, Fredrik Vult

AU - Wiebe, Thomas

AU - Bauer, Henrik C F

AU - Hansén Nord, Karolin

AU - Gisselsson, David

AU - Domanski, Henryk A

AU - Mandahl, Nils

AU - Mertens, Fredrik

N1 - The information about affiliations in this record was updated in December 2015. The record was previously connected to the following departments: Division of Clinical Genetics (013022003), Department of Orthopaedics (Lund) (013028000), Paediatrics (Lund) (013002000), Pathology, (Lund) (013030000)

PY - 2013/8/14

Y1 - 2013/8/14

N2 - Soft tissue tumors in children under one year of age (infants) are rare. The etiology is usually unknown, with external factors or congenital birth defects and hereditary syndromes being recognized in only a small proportion of the cases. We ascertained the cytogenetic findings in 16 infants from whom tumor tissue had been obtained during a 25-year period. In eight of them, single nucleotide polymorphism (SNP) array analyses could also be performed. No constitutional chromosome aberrations were detected, and assessment of clinical files did not reveal any congenital or later anatomical defects. Three tumors--one infantile fibrosarcoma, one embryonal rhabdomyosarcoma, and one angiomatoid fibrous histiocytoma (AFH)--had abnormal karyotypes. As the AFH had an exchange between chromosome arms 12p and 15q, additional fluorescence in situ hybridization and reverse transcription-polymerase chain reaction analyses were performed, unexpectedly revealing an ETV6/NTRK3 fusion. Three of the eight tumors, including the AFH with an abnormal karyotype, analyzed by SNP array showed aberrations (loss of heterozygosity or imbalances). The present series suggests that the addition of array-based technologies is valuable for detecting underlying pathogenetic mechanisms.

AB - Soft tissue tumors in children under one year of age (infants) are rare. The etiology is usually unknown, with external factors or congenital birth defects and hereditary syndromes being recognized in only a small proportion of the cases. We ascertained the cytogenetic findings in 16 infants from whom tumor tissue had been obtained during a 25-year period. In eight of them, single nucleotide polymorphism (SNP) array analyses could also be performed. No constitutional chromosome aberrations were detected, and assessment of clinical files did not reveal any congenital or later anatomical defects. Three tumors--one infantile fibrosarcoma, one embryonal rhabdomyosarcoma, and one angiomatoid fibrous histiocytoma (AFH)--had abnormal karyotypes. As the AFH had an exchange between chromosome arms 12p and 15q, additional fluorescence in situ hybridization and reverse transcription-polymerase chain reaction analyses were performed, unexpectedly revealing an ETV6/NTRK3 fusion. Three of the eight tumors, including the AFH with an abnormal karyotype, analyzed by SNP array showed aberrations (loss of heterozygosity or imbalances). The present series suggests that the addition of array-based technologies is valuable for detecting underlying pathogenetic mechanisms.

KW - Age of Onset

KW - Cytogenetic Analysis

KW - Female

KW - Fibrosarcoma

KW - Humans

KW - Infant

KW - Infant, Newborn

KW - Male

KW - Microarray Analysis

KW - Oncogene Proteins, Fusion

KW - Polymorphism, Single Nucleotide

KW - Proto-Oncogene Proteins c-ets

KW - Receptor, trkC

KW - Repressor Proteins

KW - Retrospective Studies

KW - Rhabdomyosarcoma, Embryonal

KW - Soft Tissue Neoplasms

KW - Journal Article

KW - Research Support, Non-U.S. Gov't

U2 - 10.1016/j.cancergen.2013.06.004

DO - 10.1016/j.cancergen.2013.06.004

M3 - Article

C2 - 23938179

VL - 206

SP - 299

EP - 303

JO - Cancer Genetics

JF - Cancer Genetics

SN - 2210-7762

IS - 7-8

ER -